Integrated Knowledge Management Framework for Clinical Genomics

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PROJECT SUMMARY/ABSTRACT The rapid growth of genomic medicine reflects increases in our understanding of how genomics impacts health. Advances in the clinical utility of patient genomic information to inform diagnostic and therapeutic decision-making are driving increases in testing and the subsequent reporting of genomic data to electronic health records (EHRs) and other clinical systems. Germline genomic data are presumed to be stable over a patient’s life, but the interpretation of those data and its clinical utility will continue to evolve as new discoveries are made and translated to clinical practice. Furthermore, modern interpretations of genomic data often include multi-step processes in which one interpretation is used to inform another. The temporally dynamic nature of genomic information and knowledge (GIK) and the inter-dependencies among interpretations make a formal knowledge model for those data essential. Existing approaches to represent and manage GIK are not sufficient to fully support the needs of genomic medicine and thus a new approach must be developed. The specific objective of this research program is to develop and evaluate the Genomic Interpretation and Knowledge (GenIK) Framework for capturing interpretations related to clinical genomic results as standardized, structured data. The GenIK framework will: 1) facilitate more robust integration of genomic data into EHRs; 2) enable scalable knowledge management; 3) enable utilization of GIK by other systems; 4) enable clinical, translational, and discovery research; and 5) enable meaningful data sharing of GIK. Moreover, because the framework will be based on a generalized, standards-based knowledge model, it will elegantly extend to support new types of genomic interpretations and uses for those data. The GenIK framework will fill a critical gap in the representation, management, and delivery of GIK, thereby advancing genomic medicine. The proposed research program will develop foundational resources that will enable more seamless integration of genomics within both research and clinical settings. Research Area 1 will focus on discovery activities that support the development of the GenIK framework. Research Area 2 will focus on the translation and application of the GenIK framework within clinical systems. Research Area 3 will focus on dissemination to and engagement with stakeholder communities. The main hypothesis of this research is that implementations based on the GenIK framework will more fully capture GIK than existing approaches, thereby improving the management, use, and sharing of GIK. The Genomic Innovator Award will enable, in team-science projects and in collaboration with genomic research consortia, the study of the requirements for and implementation of scalable GIK management within clinical systems. The resources developed by the proposed research program will allow the capture and exchange of GIK to take place at the speed of discovery, supporting research in precision medicine as part of a learning healthcare system and accelerating scientific and medical breakthroughs that improve human health.